Canonical Allele Identifier: PA095684
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99284
ClinVar RCV Id: RCV000085637 RCV000408472 RCV001073630 RCV000763043 RCV001808325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Cys1488Arg
CA227193
NM_000350.3:c.4462T>C